Severe Combined Immunodeficiency, Autosomal Recessive, T-Cell Negative, B Cell-Positive, NK Cell-Positive

MedGen UID:: 373235
•Concept ID:: C1837028
•: Disease or Syndrome

Synonyms:	SCID, Autosomal Recessive, T Cell Negative, B Cell Positive, NK Cell Positive; Severe Combined Immunodeficiency, Autosomal Recessive, T Cell Negative, B Cell Positive, NK Cell Positive

OMIM®:	608971; 619924

Definition

An autosomal recessive severe combined immunodeficiency, the phenotype of which is caused by mutation(s) in the IL7R or PTPRC genes, encoding interleukin-7 receptor subunit alpha and receptor-type tyrosine-protein phosphatase C (CD45) respectively. [from NCI]

Term Hierarchy

GTR
MeSH

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVSevere Combined Immunodeficiency, Autosomal Recessive, T-Cell Negative, B Cell-Positive, NK Cell-Positive

Pathological Conditions, Signs and Symptoms
- Pathological process
  - Disease
    - Hereditary disease
      - Combined immunodeficiency
        Severe combined immunodeficiency disease
        Severe Combined Immunodeficiency, Autosomal Recessive, T-Cell Negative, B Cell-Positive, NK Cell-Positive
        Severe Combined Immunodeficiency due to CD45 Deficiency

Recent clinical studies

Etiology

Severe combined immunodeficiency pig as an emerging animal model for human diseases and regenerative medicines.

Iqbal MA, Hong K, Kim JH, Choi Y
BMB Rep 2019 Nov;52(11):625-634. doi: 10.5483/BMBRep.2019.52.11.267. PMID: 31722780 Free PMC Article

See all (1)

Diagnosis

Diagnosis: Melanoderma after Hematopoietic Stem Cell Transplantation.

Ünal Ş, Tezcan İ, Güçer Ş, Boyraz MS, Çağdaş D, Uçkan Çetinkaya D
Turk J Haematol 2015 Dec;32(4):378-9. Epub 2015 Apr 27 doi: 10.4274/tjh.2014.0475. PMID: 25912830 Free PMC Article

See all (1)

Therapy

Diagnosis: Melanoderma after Hematopoietic Stem Cell Transplantation.

Ünal Ş, Tezcan İ, Güçer Ş, Boyraz MS, Çağdaş D, Uçkan Çetinkaya D
Turk J Haematol 2015 Dec;32(4):378-9. Epub 2015 Apr 27 doi: 10.4274/tjh.2014.0475. PMID: 25912830 Free PMC Article

See all (1)

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Severe Combined Immunodeficiency, Autosomal Recessive, T-Cell Negative, B Cell-Positive, NK Cell-Positive

Definition

Term Hierarchy

Recent clinical studies

Etiology

Diagnosis

Therapy

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